Identification of two rare β-globin gene mutations in a patient with β-thalassemia intermedia from Azerbaijan.

Identification of two rare β-globin gene mutations in a patient with β-thalassemia intermedia from Azerbaijan. Asadov, C., Abdulalimov, E., Mammadova, T., Qafarova, S. N., Guliyeva, Y., Tuli, A., Çürük, M. A., & Curuk, M. A. Hemoglobin, 37(3):291–296, May, 2013. MAG ID: 2056804769
doi abstract bibtex

β-Thalassemias are an inherited group of disorders of hemoglobin (Hb) and comprise the most common monogenic disorders in Azerbaijan. They are extremely heterogeneous at the molecular level. Here we report the first identification of a patient who is a compound heterozygote for two rare β-thalassemia (β-thal) mutations, IVS-I-130 (G\textgreaterC) and codon 37 (TGG\textgreaterTGA).

@article{asadov_identification_2013,
	title = {Identification of two rare β-globin gene mutations in a patient with β-thalassemia intermedia from {Azerbaijan}.},
	volume = {37},
	doi = {10.3109/03630269.2013.774283},
	abstract = {β-Thalassemias are an inherited group of disorders of hemoglobin (Hb) and comprise the most common monogenic disorders in Azerbaijan. They are extremely heterogeneous at the molecular level. Here we report the first identification of a patient who is a compound heterozygote for two rare β-thalassemia (β-thal) mutations, IVS-I-130 (G{\textgreater}C) and codon 37 (TGG{\textgreater}TGA).},
	number = {3},
	journal = {Hemoglobin},
	author = {Asadov, Chingiz and Abdulalimov, Eldar and Mammadova, Tahira and Qafarova, Surmaya N. and Guliyeva, Yegana and Tuli, Abdullah and Çürük, M. Akif and Curuk, M. Akif},
	month = may,
	year = {2013},
	doi = {10.3109/03630269.2013.774283},
	pmid = {23510507},
	note = {MAG ID: 2056804769},
	pages = {291--296},
}

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